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gaze palsy, familial horizontal, with progressive scoliosis 1 (HGPPS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

gaze palsy, familial horizontal, with progressive scoliosis 1

MONDO:0020790

Also known as:HGPPSHGPPS1gaze palsy, familial horizontal, with progressive scoliosis, 1

Overview

GeneticsAutosomal recessive · ROBO3 (chr 11)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Torticollis, Global developmental delay, Hypoplasia of the pons, and Nystagmus and others; and common findings: Hyperopic astigmatism, Axial hypotonia, Generalized hypotonia, and Impaired ocular abduction and others. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	2	Axial hypotonia, Generalized hypotonia

Genetic Landscape

ROBO3 function has not been fully characterized.

Gaze palsy, familial horizontal, with progressive scoliosis 1 is caused by mutations in the ROBO3 gene on chromosome 11.

Diagnosis

Genetic testing for ROBO3 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features, 7 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for gaze palsy, familial horizontal, with progressive scoliosis 1.

5 publications have been identified in PubMed for gaze palsy, familial horizontal, with progressive scoliosis 1. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).

Recent Publications

Shams Nosrati MS (2026). [PMID: 41881248](https://pubmed.ncbi.nlm.nih.gov/41881248/). *Eur J Med Genet*. [Case Report / Case Series]
Bhate M (2026). [PMID: 41001820](https://pubmed.ncbi.nlm.nih.gov/41001820/). *J Pediatr Ophthalmol Strabismus*. [Review / Meta-Analysis]
Elhilali H (2025). [PMID: 41001872](https://pubmed.ncbi.nlm.nih.gov/41001872/). *J Pediatr Ophthalmol Strabismus*. [Case Report / Case Series]
Harahsheh EY (2025). [PMID: 39960500](https://pubmed.ncbi.nlm.nih.gov/39960500/). *Neurogenetics*. [Review / Meta-Analysis]
Günbey C (2024). [PMID: 39030736](https://pubmed.ncbi.nlm.nih.gov/39030736/). *Ann Clin Transl Neurol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 21, 2026, 4:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607313

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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gaze palsy, familial horizontal, with progressive scoliosis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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